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2016, Number 2

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Correo Científico Médico 2016; 20 (2)

Prevalence of inbreeding and Usher syndrome in Holguín province

Santana HEE, Tamayo CVJ, Lantigua CPA, Rabilero BM, Argüelles GI

Language: Spanish
References: 14
Page: 266-274
PDF size: 264.64 Kb.


ABSTRACT

Introduction: Usher syndrome is a genetic disease that follows an autosomal recessive inheritance so consanguineous marriages are at high risk in heterozygous carriers of mutations. This disease is the second cause of visual and hearing impairment in all regions of the world. This expresses a significant clinical and genetic heterogeneity. It is characterized by bilateral sensorineural hearing loss of moderate to deep, progressive retinitis pigmentosa and in some cases alteration of vestibular function.
Objective: to describe the inbreeding prevalence in relation to the appearance of the disease in the province.
Methods: a descriptive, retrospective, case series study in 53 patients with Usher syndrome was done, the medical records of Retinitis Pigmentosa Center of the Holguín province were reviewed. They drew up genetic history and family tree.
Results: predominance of males between 50 and 59 years, for 30.18%. The municipality of Holguin was the most prevalent with 23%, followed by Mayari with 21%, with 33 sick consanguineous for 62.26%, the number of consanguineous families was 13 for 24.52%.
Conclusions: the prevalence of the number of patients in this region as consequences of inbreeding is explained. This social factor is a problem in the province and it is necessary to devise strategies to reduce this practice that causes heritable autosomal recessive diseases.


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